A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893123



Internal ID169572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183316266..183316408hg38UCSC Ensembl
chr1:183285401..183285543hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435198
Supporting Variants
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893123
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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